The management of Familial Pulmonary Fibrosis in different medical settings: Where does that leave us? An Italian nationwide survey

Background and aim: Familial Pulmonary Fibrosis (FPF) is an emerging group of interstitial lung diseases (ILDs) caused by mutations mainly involving telomere-related genes (TRGs) and surfactant-related genes (SRGs). Although, in 2023, the European Respiratory Society (ERS) proposed a statement for FPF management, these still remain a burden. Our work aimed to evaluate the management and impact of FPF in three different Italian medical settings: university hospitals (UHs), non-university hospitals (n-UHs) and outpatient clinics. Methods: This survey was created by diffuse ILDs Study Group of Società Italiana di Pneumologia/ Italian Respiratory Society (SIP-IRS) and diffused via email to all SIP-IRS members. The descriptive statistical analysis was conducted through version 8.0 © 2023 GraphPad Software. Categorical variables were expressed as frequencies and percentages. Chi-square test was used to compare categorical variables. A p-value < 0.05 was regarded as significant. Results: Twenty participants replied to the survey, of which 65% (13/20) worked at UH while the remaining 25% (6/20) and 5% (1/20) worked at n-UH and outpatient clinics, respectively. Centers with, at least, 150 ILD patients visits/year followed a higher number of FPF patients, regardless of university affiliation (p=0.0046). Despite significant discrepancies in genetic testing and availability of counselling were registered, no statistically significant differences in patients’ anamnesis assessment were observed between UHs and n-UHs (p=0.4192 and p=0.6525). However, there were relevant differences in the number of FPF patients undergoing genetic assessment in the centers with genetics lab or unit inside the hospital (p=0.0253). There was no consensus regarding the impact of FPF diagnosis on lung transplantation and screening of asymptomatic relatives. Similarly, no differences were reported in antifibrotic prescriptions between UHs and n-UHs. Although the typical UIP pattern was the most common radiological pattern observed in FPF patients, there were no differences in the prevalence of histopathological patterns between UHs and n-UHs. Conclusions: Improving pulmonologists’ knowledge of the approach, diagnosis and management of FPF is a global medical topic. Scientific societies can provide significant support in raising physicians’ awareness of this issue.